Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis.

ABSTRACT: Graph-based genome reference representations have seen significant development, motivated by the inadequacy of the current human genome reference to represent the diverse genetic information from different human populations and its inability to maintain the same level of accuracy for non-European ancestries. While there have been many efforts to develop computationally efficient graph-based toolkits for NGS read alignment and variant calling, methods to curate genomic variants and subsequently construct genome graphs remain an understudied problem that inevitably determines the effectiveness of the overall bioinformatics pipeline. In this study, we discuss obstacles encountered during graph construction and propose methods for sample selection based on population diversity, graph augmentat

SUBMITTER: Tetikol HS 

PROVIDER: S-EPMC9352875 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature